A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report
A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report
复制标题
俄罗斯皮肤松弛家族中的一种新型弹性蛋白基因移码突变：病例报告
作者：
E. G. Okuneva;A. A. Kozina;N. Baryshnikova;A. Krasnenko;K.Yu. Tsukanov;O. I. Klimchuk;E. Surkova;V. Ilinsky
皮肤松弛症（拉克萨，CL）是一种罕见的结缔组织疾病，以皮肤松弛、松弛、无弹性和起皱为特征.患者出现过早衰老的外观。遗传可以是常染色体显性或常染色体隐性。X连锁型现在被归类为铜转运疾病。常染色体显性遗传CL的特点是皱纹，多余和下垂，无弹性的皮肤，在某些情况下，是与内部器官involvement.Case presentationWe报告的常染色体显性遗传CL，其中包括一个33岁的妇女和她的11岁的儿子干燥，薄，皱纹的皮肤，出现过早老化的家族性病例。在这两例患者中，我们发现了弹性蛋白转录本NM_001278939. 1第34外显子的新杂合突变c.2323delG（p.Ala775fs）。在弹性蛋白基因的最后一个外显子类似的移码突变先前报道的常染色体显性遗传CL患者。ConclusionsOur结果显示一种新的移码突变，发现在皮肤拉克萨患者。外显子组测序是正确诊断具有相似表型的疾病以确保提供适当治疗的有效且有用的技术。
BackgroundCutis laxa (CL) is a rare connective tissue disorder characterized by loose, redundant, inelastic and wrinkled skin. Patients develop a prematurely aged appearance. Inheritance can be autosomal dominant or autosomal recessive. The X-linked form is now classified in the group of copper transport diseases. Autosomal dominant CL is characterized by wrinkled, redundant and sagging, inelastic skin and in some cases is associated with internal organ involvement.Case presentationWe report a familial case of autosomal dominant CL, which includes a 33-year-old woman and her 11-year-old son with dry, thin and wrinkled skin that appeared prematurely aged. No serious involvement of internal organs was found. In both patients, we identified novel heterozygous mutation c.2323delG (p.Ala775fs) in exon 34 of elastin transcript NM_001278939.1. Similar frameshift mutations in the last exons of elastin gene were previously reported in patients with autosomal dominant CL.ConclusionsOur results show a novel frameshift mutation that was found in patients with cutis laxa. Exome sequencing is effective and useful technology for properly diagnosis of diseases with similar phenotype to ensure proper treatment is provided.
登录
查看更多内容
枕角综合征和斑点小鼠中 Menkes/斑驳铜转运 ATP 酶基因的相似剪接突变。
影响因子：
9.8
作者：
Das,S;Levinson,B;Vulpe,C;Whitney,S;Gitschier,J;Packman,S
通讯作者：
Packman,S
影响因子：
6.5
作者：
Urban, Z;Gao, JM;Davis, EC
通讯作者：
Davis, EC
皮肤老化：皮肤松弛和弹性皮病的教训。
DOI：
--
发表时间：
1989
期刊：
Cutis; cutaneous medicine for the practitioner
影响因子：
--
作者：
Fazio,MJ;Olsen,DR;Uitto,JJ
通讯作者：
Uitto,JJ
弹性纤维系统的遗传性疾病。
DOI：
10.1016/s0945-053x(00)00099-8
发表时间：
2000
期刊：
Matrix biology : journal of the International Society for Matrix Biology
影响因子：
--
作者：
Milewicz,DM;Urbán,Z;Boyd,C
通讯作者：
Boyd,C